GENE NAME | DLX5 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000105880 |
ENTREZ ID | 1749 |
UNIPROT ACCESSION NUMBER | P56178 |
GO MOLECULAR FUNCTION | DNA-binding transcription activator activity, RNA polymerase II-specific; transcription cis-regulatory region binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; HMG box domain binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04550; hsa04550; R-HSA-73857; R-HSA-212436; R-HSA-8878166; R-HSA-74160; R-HSA-8939902 |
3 combinations linked to DLX5 | OLI864; OLI903; OLI874 |
2 variants linked to DLX5 | DLX5:c.505G>A, p.Glu169Lys; DLX5:c.593A>C, p.Asn198Thr |
2 diseases linked to DLX5 | Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome |